Canonical Allele Identifier: CA348608734

Gene: LCT

Linked Data

• MyVariant Identifiers: chr2:g.136590688A>T (hg19) ; chr2:g.135833118A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135833118A>T , CM000664.2:g.135833118A>T	GRCh38
NC_000002.11:g.136590688A>T , CM000664.1:g.136590688A>T	GRCh37
NC_000002.10:g.136307158A>T	NCBI36
NG_008104.2:g.27052T>A , LRG_338:g.27052T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264162.7:c.713T>A MANE Select	ENSP00000264162.2:p.Leu238His
ENST00000264162.6:c.713T>A	ENSP00000264162.2:p.Leu238His
NM_002299.2:c.713T>A , LRG_338t1:c.713T>A	NP_002290.2:p.Leu238His
NM_002299.3:c.713T>A	NP_002290.2:p.Leu238His
XM_017004088.2:c.713T>A	XP_016859577.1:p.Leu238His
NM_002299.4:c.713T>A MANE Select	NP_002290.2:p.Leu238His